ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825494848
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9388
ClinVar RCV Id:
RCV000009986
RCV000058542
RCV000183020
RCV002504775
RCV004532320
RCV003591626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ala997Ser
CA016718
NM_001099405.2:c.2989G>T